Pediatric Nephrology

, Volume 29, Issue 12, pp 2415–2419 | Cite as

Eculizumab in neonatal hemolytic uremic syndrome with homozygous factor H deficiency

  • Katell Michaux
  • Justine Bacchetta
  • Etienne Javouhey
  • Pierre Cochat
  • Véronique Frémaux-Bacchi
  • Anne-Laure Sellier-Leclerc
Brief Report



Neonatal atypical hemolytic uremic syndrome (aHUS) is a rare but severe disease that is mainly due to methylmalonic aciduria or genetic complement abnormalities. Traditional management of aHUS includes plasma infusion/exchange, but in small or unstable infants, plasma exchange can be challenging because of high extracorporeal volume and difficulty to obtain an adequate venous access. The C5 complement blocker eculizumab has become a cornerstone of first-line management of aHUS due to complement deregulation in older patients. However, little data are available on its use in neonatal aHUS.


We report on an 11-day-old neonate with severe aHUS (myocardial impairment, respiratory failure, acute kidney disease requiring hemodiafiltration) due to homozygous factor-H deficiency. She received early treatment with eculizumab as first-line therapy and completely recovered within 5 days. A second dose of eculizumab was administered 7 days after the first infusion, followed by a dose every 2 weeks for 2 months and then every 3 weeks, at the same dosage (300 mg). With more than 24 months of follow-up, renal function remains normal.


We report on the long-term efficacy and safety of eculizumab as first-line therapy in neonatal aHUS. However its use still requires optimization in terms of indications and administration (frequency, dosage).


Atypical hemolytic uremic syndrome Homozygous Factor H deficiency Eculizumab Infant 



The authors would like to thank Thabo Mahendiran, Dr Agnès Veyradier (unité INSERM, Hôpital Kremlin-Bicêtre, Paris) and Pr Chantal Loirat (Hôpital Robert Debré, Paris) for their help.

Financial disclosure statement


Conflicts of interest

Veronique Fremeaux-Bacchi had received fees from Alexion Pharmaceuticals for invited lectures and participation on advisory boards


  1. 1.
    Ariceta G, Besbas N, Johnson S, Karpman D, Landau D, Licht C, Loirat C, Pecoraro C, Taylor CM, Van de Kar N, Vandewalle J, Zimmerhackl LB, European Paediatric Study Group for HUS (2008) Guideline for the investigation and initial therapy of diarrhea-negative hemolytic uremic syndrome. Pediatr Nephrol 24:687–696PubMedCrossRefGoogle Scholar
  2. 2.
    Sellier-Leclerc A-L, Fremeaux-Bacchi V, Dragon-Durey M-A, Macher M-A, Niaudet P, Guest G, Boudailliez B, Bouissou F, Deschenes G, Gie S, Tsimaratos M, Fischbach M, Morin D, Nivet H, Alberti C, Loirat C, French Society of Pediatric Nephrology (2007) Differential impact of complement mutations on clinical characteristics in atypical hemolytic uremic syndrome. J Am Soc Nephrol 18:2392–2400PubMedCrossRefGoogle Scholar
  3. 3.
    Loirat C, Frémeaux-Bacchi V (2011) Atypical hemolytic uremic syndrome. Orphanet J Rare Dis 6:60PubMedCrossRefPubMedCentralGoogle Scholar
  4. 4.
    Ohali M, Shalev H, Schlesinger M, Katz Y, Kachko L, Carmi R, Sofer S, Landau D (1998) Hypocomplementemic autosomal recessive hemolytic uremic syndrome with decreased factor H. Pediatr Nephrol 12:619–624PubMedCrossRefGoogle Scholar
  5. 5.
    Warwicker P, Goodship TH, Donne RL, Pirson Y, Nicholls A, Ward RM, Turnpenny P, Goodship JA (1998) Genetic studies into inherited and sporadic hemolytic uremic syndrome. Kidney Int 53:836–844PubMedCrossRefGoogle Scholar
  6. 6.
    Legendre CM, Licht C, Loirat C (2013) Eculizumab in atypical hemolytic-uremic syndrome. N Engl J Med 369:1379–1380PubMedGoogle Scholar
  7. 7.
    Zuber J, Fakhouri F, Roumenina LT, Loirat C, Frémeaux-Bacchi V, French Study Group for aHUS/C3G (2012) Use of eculizumab for atypical haemolytic uraemic syndrome and C3 glomerulopathies. Nat Rev Nephrol 8:643–657PubMedCrossRefGoogle Scholar
  8. 8.
    Rees L (2013) Atypical HUS: time to take stock of current guidelines and outcome measures? Pediatr Nephrol 28:675–677PubMedCrossRefGoogle Scholar
  9. 9.
    Ying L, Katz Y, Schlesinger M, Carmi R, Shalev H, Haider N, Beck G, Sheffield VC, Landau D (1999) Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome. Am J Hum Genet 65:1538–1546PubMedCrossRefPubMedCentralGoogle Scholar
  10. 10.
    Buddles MRH, Donne RL, Richards A, Goodship J, Goodship THJ (2000) Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome. Am J Hum Genet 66:1721–1722PubMedCrossRefPubMedCentralGoogle Scholar
  11. 11.
    Ariceta G, Arrizabalaga B, Aguirre M, Morteruel E, Lopez-Trascasa M (2012) Eculizumab in the treatment of atypical hemolytic uremic syndrome in infants. Am J Kidney Dis 59:707–710PubMedCrossRefGoogle Scholar
  12. 12.
    Landau D, Shalev H, Levy-Finer G, Polonsky A, Segev Y, Katchko L (2001) Familial hemolytic uremic syndrome associated with complement factor H deficiency. J Pediatr 138:412–417PubMedCrossRefGoogle Scholar
  13. 13.
    Noris M, Remuzzi G (2010) Genetics and genetic testing in hemolytic uremic syndrome/thrombotic thrombocytopenic purpura. Semin Nephrol 30:395–408PubMedCrossRefGoogle Scholar
  14. 14.
    Habibi I, Sfar I, Ben Alaya W, Methlouthi J, Ayadi A, Brahim M, Blouin J, Dhagbouj R, Ben Rhomdhane T, Makhlouf M, Aouadi H, Ayed-Jendoubi S, Fremeaux-Bacchi V, Sfar T, Ben Abdallah T, Ayed K, Gorgi Y (2010) Atypical hemolytic uremic syndrome and mutation analysis of factor H gene in two Tunisian families. Int J Nephrol Renovasc Dis 3:85–92PubMedPubMedCentralGoogle Scholar
  15. 15.
    Gruppo RA, Rother RP (2009) Eculizumab for congenital atypical hemolytic-uremic syndrome. N Engl J Med 360:544–546PubMedCrossRefGoogle Scholar
  16. 16.
    Legendre CM, Licht C, Muus P, Greenbaum LA, Babu S, Bedrosian C, Bingham C, Cohen DJ, Delmas Y, Douglas K, Eitner F, Feldkamp T, Fouque D, Furman RR, Gaber O, Herthelius M, Hourmant M, Karpman D, Lebranchu Y, Mariat C, Menne J, Moulin B, Nürnberger J, Ogawa M, Remuzzi G, Richard T, Sberro-Soussan R, Severino B, Sheerin NS, Trivelli A, Zimmerhackl LB, Goodship T, Loirat C (2013) Terminal complement inhibitor eculizumab in atypical hemolytic-uremic syndrome. N Engl J Med 368:2168–2169CrossRefGoogle Scholar
  17. 17.
    Ohanian M, Cable C, Halka K (2011) Reduced dose maintenance eculizumab in atypical hemolytic uremic syndrome (aHUS): an update on a previous case report. Clin Pharmacol 3:45–50PubMedPubMedCentralGoogle Scholar
  18. 18.
    Besbas N, Gulhan B, Karpman D, Topaloglu R, Duzova A, Korkmaz E, Ozaltin F (2013) Neonatal onset atypical hemolytic uremic syndrome successfully treated with eculizumab. Pediatr Nephrol 28:155–158PubMedCrossRefGoogle Scholar

Copyright information

© IPNA 2014

Authors and Affiliations

  • Katell Michaux
    • 1
  • Justine Bacchetta
    • 1
    • 3
  • Etienne Javouhey
    • 2
    • 3
  • Pierre Cochat
    • 1
    • 3
  • Véronique Frémaux-Bacchi
    • 4
  • Anne-Laure Sellier-Leclerc
    • 1
  1. 1.Centre de Référence des Maladies Rénales Rares, Hôpital Femme Mère EnfantHospices Civils de LyonBron CedexFrance
  2. 2.Réanimation Pédiatrique, Hôpital Femme Mère EnfantHospices Civils de LyonBron CedexFrance
  3. 3.Université Lyon 1LyonFrance
  4. 4.Laboratoire d’immunologie, Hôpital Georges PompidouAssistance publique–Hôpitaux de Paris (AP-HP)ParisFrance

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